| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000242057 |
| Start |
17339563:17339563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1738G>T |
| AA Mutation |
p.Glu580Ter(p.E580*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000242057 |
| Start |
17339011:17339011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1186C>T |
| AA Mutation |
p.Arg396Ter(p.R396*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000242057 |
| Start |
17310041:17310042(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.171_172insT |
| AA Mutation |
p.Gln58SerfsTer5(p.Q58Sfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |